Variant report

Variant	rs8013775
Chromosome Location	chr14:21521762-21521763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21521440-21522885	HepG2	liver:	n/a	n/a
2	MYBL2	chr14:21521734-21524555	HepG2	liver:	n/a	chr14:21523919-21523929
3	NFIC	chr14:21521751-21525064	HepG2	liver:	n/a	chr14:21524867-21524883 chr14:21523974-21524002
4	HEY1	chr14:21521731-21524510	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21520181..21522093-chr14:21562731..21565529,2	MCF-7	breast:
2	chr14:21519022..21522273-chr14:21527508..21531812,4	MCF-7	breast:
3	chr14:21520666..21522460-chr17:57913642..57916296,2	MCF-7	breast:

Variant related genes	Relation type
RNASE8	TF binding region
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10138984	1.00[EUR][1000 genomes]
rs56209647	1.00[EUR][1000 genomes]
rs56780082	1.00[AMR][1000 genomes]
rs73575821	1.00[EUR][1000 genomes]
rs74036527	1.00[EUR][1000 genomes]
rs74036528	1.00[EUR][1000 genomes]
rs74037727	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
4	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1039369	chr14:21499054-21530301	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21502000-21536600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:21508400-21523600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:21512600-21528000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:21515400-21521800	Enhancers	HepG2	liver
5	chr14:21516400-21522600	Weak transcription	Lung	lung
6	chr14:21516800-21521800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:21517200-21521800	Weak transcription	Stomach Mucosa	stomach
8	chr14:21517400-21522200	Weak transcription	Pancreas	Pancrea
9	chr14:21517400-21522400	Weak transcription	Spleen	Spleen
10	chr14:21517400-21522600	Weak transcription	NHDF-Ad	bronchial
11	chr14:21517800-21524600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:21517800-21526000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:21517800-21536600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:21518000-21521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:21518000-21523400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:21518000-21524800	Weak transcription	Osteobl	bone
17	chr14:21518600-21522200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:21518800-21525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:21520000-21523800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:21520400-21523000	Enhancers	Liver	Liver
21	chr14:21520800-21521800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:21521400-21521800	Weak transcription	Rectal Mucosa Donor 29	rectum

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